Source: LHGDN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3040
Gene Symbol: HBA2
HBA2
hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.800 strong 0.987 3 0 1971 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.500 None 1.000 2 0 1985 2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.300 None 1.000 3 0 1996 2018
Entrez Id: 1378
Gene Symbol: CR1
CR1
complement C3b/C4b receptor 1 (Knops blood group) 0.533 0.808 1.6E-35
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3045
Gene Symbol: HBD
HBD
hemoglobin subunit delta 0.659 0.231
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.010 None 1.000 1 0 2004 2004